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Pulmonary BRAF-driven Langerhans cell histiocytosis following selpercatinib use in metastatic medullary thyroid cancer.
Endocrinol Diabetes Metab Case Rep
April 2024
Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia.
Article Synopsis
- RET mutations are found in 60% of medullary thyroid cancer cases and the drug selpercatinib shows significant effectiveness against it compared to older treatments.
- A 22-year-old woman with metastatic medullary thyroid cancer improved with selpercatinib, but later developed lung nodules diagnosed as Langerhans cell histiocytosis, which had a rare BRAF mutation.
- The authors suggest that the use of RET inhibitors like selpercatinib might cause dormant BRAF mutations to activate, leading to new cancers due to changes in the MAPK signaling pathway.
Signet-ring cell sinus histiocytosis: report of the clinicopathologic characteristics of 4 cases with emphasis on the differential diagnosis of signet-ring cell lesions.
Hum Pathol
September 2023
Department of Pathology, The Ohio State University Wexner Medical Center, James Cancer Hospital and Solove Research Institute, Columbus, OH, 43210, USA.
Signet-ring cell sinus histiocytosis (SRCSH) represents a distinctly rare reactive phenomenon predominantly affecting axillary and pelvic lymph nodes (LNs) of individuals with breast or prostatic adenocarcinoma. Reports of SRCSH in the literature are sparse with only 12 previous examples, thus underscoring the rarity of this process. Here, we report 4 additional SRCSH cases affecting 2 women and 2 men (M/F = 1:1; age range: 50-71 years; mean age = 61 years).
View Article and Find Full Text PDFTazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
J Natl Cancer Inst
November 2023
Department of Pediatrics, Texas Children's Cancer and Hematology Center, Baylor College of Medicine, Houston, TX, USA.
Background: National Cancer Institute-Children's Oncology Group Pediatric Molecular Analysis for Therapy Choice assigns patients aged 1-21 years with refractory solid tumors, brain tumors, lymphomas, and histiocytic disorders to phase II trials of molecularly targeted therapies based on detection of predefined genetic alterations. Patients whose tumors harbored EZH2 mutations or loss of SMARCB1 or SMARCA4 by immunohistochemistry were treated with EZH2 inhibitor tazemetostat.
Methods: Patients received tazemetostat for 28-day cycles until disease progression or intolerable toxicity (max 26 cycles).
Correlation Between Clinical and Histological Features of Dermatopathic Lymphadenopathy: Analysis of 39 Lymph Nodes.
Int J Surg Pathol
April 2024
Department of Dermatology and Venereology, Health Science University Umraniye Training and Research Hospital, Istanbul, Turkey.
Dermatopathic lymphadenopathy is a well-defined histopathological entity with an underestimated prevalence in the general population. The present study was conducted to analyze the characteristics of histologically diagnosed cases of dermatopathic lymphadenopathy at our unit. We also aimed to investigate any association between the clinical features of the patients and the histological findings.
View Article and Find Full Text PDFThe spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors.
Childs Nerv Syst
February 2023
Department of Hematology/Oncology, Hospital JP Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina.
Purpose: Central nervous system high-grade neuroepithelial tumor with MN1 alteration (CNS-HGNET-MN1) is a rare entity defined by its DNA methylation pattern and pathologically considered to be high-grade with mixed patterns, stromal hyalinization, and with astrocytic differentiation. Our aim was to present six pediatric cases to contribute to the characterization of this group of tumors.
Material And Methods: Six female patients aged 4 to 12 years with CNS tumors with MN1 alteration identified using genome-wide methylation arrays and/or RT-PCR were included.
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